rs80357832
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GATA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GATA;GATA) | 0 | Normal |
Make rs80357832(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092722 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357832 |
dbSNP (classic) | rs80357832 |
ClinGen | rs80357832 |
ebi | rs80357832 |
HLI | rs80357832 |
Exac | rs80357832 |
Gnomad | rs80357832 |
Varsome | rs80357832 |
LitVar | rs80357832 |
Map | rs80357832 |
PheGenI | rs80357832 |
Biobank | rs80357832 |
1000 genomes | rs80357832 |
hgdp | rs80357832 |
ensembl | rs80357832 |
geneview | rs80357832 |
scholar | rs80357832 |
rs80357832 | |
pharmgkb | rs80357832 |
gwascentral | rs80357832 |
openSNP | rs80357832 |
23andMe | rs80357832 |
SNPshot | rs80357832 |
SNPdbe | rs80357832 |
MSV3d | rs80357832 |
GWAS Ctlg | rs80357832 |
Max Magnitude | 6 |
rs80357832, also known as 2925del4, c.2806_2809delGATA and p.Asp936_Lys937?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357832(-;-) |
Alt | rs80357832(-;-) |
Reference | Rs80357832(GATA;GATA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41244739_41244742delTATC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031072.6, RCV000047975.4, RCV000131908.2, RCV000480052.1, |